Life Diagnostic test

The path to better health starts with early answers

• When a child has developmental, behavioural or medical challenges, one of the most important questions for parents and doctors is:
• “Is there an underlying genetic cause?”
• The Life Diagnostic Test is an advanced pediatric genomic test that goes beyond a classic chromosomal microarray.
• It combines:
• high-resolution CNV analysis (copy number gains and losses across all chromosomes)
• with more than 2 million SNP markers, allowing us to detect
  • small chromosomal changes,
  • regions of homozygosity,
  • uniparental disomy (UPD), and
  • clinically relevant variants in genes important for neurodevelopment and other pediatric disorders.
• All from a simple cheek swab, without needles.

What can the Life Diagnostic Test detect?

The Life Diagnostic Test is designed primarily for children with developmental and neurological problems, but it is not limited only to the brain. It can help detect:

• Copy number variations (CNVs)
  • deletions and duplications that are too small to see on a karyotype
  • involving one or many genes, across all chromosomes
• Regions of homozygosity (ROH)
  • may suggest shared ancestry / consanguinity
  • can point to an increased risk for autosomal recessive disorders
• Uniparental disomy (UPD)
  • both copies of a chromosome (or part of it) coming from one parent
  • can be associated with imprinting disorders and growth problems
• Clinically significant SNP changes
  • more than 2 million SNPs are analysed
  • allows prioritisation of known pathogenic or likely pathogenic variants in genes relevant for:
    • global developmental delay and intellectual disability
    • autism spectrum and social communication disorders
    • epilepsy and seizure syndromes
    • congenital anomalies and syndromic presentations
    • other recognised pediatric genetic conditions where robust SNP evidence exists

In many children, this type of analysis can provide a single unifying explanation for multiple symptoms (development, behaviour, growth, organ anomalies).

Important: No genetic test can detect all possible conditions. Life Diagnostic significantly increases the chance of finding a cause, but a normal result does not exclude all genetic or non-genetic explanations

Why is this test preferred over a classic karyotype?

Compared with conventional high-resolution karyotyping, the Life Diagnostic Test:

• has much higher resolution – can detect small CNVs that karyotype cannot see
• is more comprehensive – genome-wide analysis, not limited to visible chromosome changes
• can identify regions of homozygosity and UPD, which standard karyotyping usually misses
• now also integrates >2 million SNP markers, adding another layer of information beyond copy number alone

In practical terms, this means:

higher diagnostic yield for children with developmental and neurological problems

fewer unnecessary additional tests

more precise genetic counselling for the family.

In practical terms, this means:

higher diagnostic yield for children with developmental and neurological problems

fewer unnecessary additional tests

more precise genetic counselling for the family

Non-invasive

A simple cheek swab is designed for gentle and simple non-invasive sample collection.

PRICE – 400 EUR

Kit, shipping and consultation after receiving of the results are included in the price.

When should I order the Life Diagnostic Test?

Professional societies such as the American College of Medical Genetics (ACMG), American Academy of Pediatrics and American Academy of Neurology recommend chromosomal microarray testing as a first-tier investigation for individuals with:

• Global developmental delay or intellectual disability
• Autism spectrum disorder or significant social communication difficulties
• Multiple congenital anomalies (affecting different organs or systems)
• Dysmorphic features (facial or body features suggesting a syndrome)
• Unexplained epilepsy or seizures
• Severe ADHD-like symptoms with developmental or learning problems
• A combination of the above findings without a clear diagnosis

The Life Diagnostic Test follows these same indications, but extends the analysis with SNP-based information, which can be particularly useful when:

• standard chromosomal microarray was inconclusive or borderline
• there is suspicion of recessive disease or imprinting disorders
• the clinical picture suggests a known genetic syndrome, but previous testing was non-informative.

All you need to do!